Health Info

Familial Hypercholesterolemia

Definition

Familial hypercholesterolemia (FH) is an inherited condition. It causes
high levels of total cholesterol. It also increases levels of low density lipoprotein (LDL), or bad cholesterol. These high cholesterol levels increase a person’s risk for developing heart disease.

Causes

The liver removes LDL cholesterol from the blood. It does this by making receptors that attach to LDL cholesterol. With FH, there are problems with the receptors. There may be too few receptors, or they may not work as they should.

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done.

Your body fluids may be tested. This can be done with blood tests.

Your heart function may also be tested.

Treatment

After the diagnosis is made, life-long treatment will be needed. The main treatment goal is lower the risk of developing heart disease, stroke, or other problems from atherosclerosis. This can be done not only by lowering your cholesterol levels, but also by decreasing other risk factors for developing heart disease. You may be referred to a lipid specialist.

Maintaining a healthy weight is important.
If you are overweight,
talk to the doctor about how to lose weight.

Make sure other medical conditions, such as high blood pressure and diabetes, are being treated and controlled.

Medication

Because FH is an inherited condition, diet and exercise is often not enough to lower high cholesterol levels. In most cases, cholesterol-lowering medications called statins are prescribed. Statins may be able to reduce the risk of heart disease and death. In some cases, other cholesterol-lowering medications are also prescribed.
These medications are best used as additions to diet and exercise and should not replace healthy lifestyle changes.

Treatment for FH Inherited From Both Parents

If the gene mutation was inherited from both parents, along with cholesterol lowering medications, treatment may also include:

Apheresis—a process that uses a special machine to filter LDL from the blood

Liver transplant—may be done in severe cases where the condition is getting worse and treatment has been unsuccessful

Prevention

FH is an inherited condition. It cannot be prevented.

Revision Information

This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.